High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.

ABSTRACT: Human individuals differ from one another at only approximately 0.1% of nucleotide positions, but these single nucleotide differences account for most heritable phenotypic variation. Large-scale efforts to discover and genotype human variation have been limited to common polymorphisms. However, these efforts overlook rare nucleotide changes that may contribute to phenotypic diversity and genetic disorders, including cancer. Thus, there is an increasing need for high-throughput methods to robustly detect rare nucleotide differences. Toward this end, we have adapted the mismatch discovery method known as Ecotilling for the discovery of human single nucleotide polymorphisms. To increase throughput and reduce costs, we developed a universal primer strategy and implemented algorithms for automa

SUBMITTER: Till BJ 

PROVIDER: S-EPMC1540726 | biostudies-literature | 2006 Aug

REPOSITORIES: biostudies-literature